Metabolism, Inborn Errors

Guida essenziale alla gestione nutrizionale nello scompenso metabolico acuto in Pediatria

Cimador V, Candela E, Pancaldi C, Biasucci G, Bortolamedi E, Ortolano R, Baronio F, Lanari M.

2026/3 — pag. 161-166 — DOI

Background - Inherited metabolic diseases (IMDs) are a heterogeneous group of rare disorders in which nutritional management is the cornerstone of therapy, both in chronic and acute phases. In cases of acute metabolic decompensation, the timely imple...

Un approccio clinico all’ipotono neonatale attraverso i casi

Castaldo B, Cossovel F, Starc M, Bua J, Travan L.

2026/2 — pag. 109-113 — DOI

Neonatal hypotonia may be a sign of different serious conditions (metabolic and genetic diseases, infections, neuromuscular disorders, intracranial haemorrhage or malformations). However, it may also be a common consequence of early gestational age. ...

Anche il naso vuole la sua parte: quando l’odore può essere diagnostico

Candela E, Tagliaferri F, Baldo F.

2025/8 — pag. 503-506 — DOI

The distinctive body smell of a newborn or a child may be the sign of an underlying inherited metabolic disorder, and sometimes even the sole diagnostic key to identify severe genetic conditions in life or death situations (such as a coma). A quick r...

La B12 c'è ma non funziona

Vitale R.

2024/7 — pag. 468-470 — DOI

The paper reports the typical case and clinic of a defect in B12 metabolism. Such diseases, which are rare, mimic B12 intake or absorption deficits (crasis alterations, mixed neuropathy) but are distinguished first and foremost by the presence of nor...

Quando e perché pensare all'omocisteina

Ramenghi U

2024/7 — pag. 415-416 — DOI

La B12 c'è ma non funziona

Vitale R

2024/7 — pag. 133-134 — DOI

The paper reports the typical case and clinic of a defect in B12 metabolism. Such diseases, which are rare, mimic B12 intake or absorption deficits (crasis alterations, mixed neuropathy) but are distinguished first and foremost by the presence of nor...

Anticipare il futuro (di circa otto anni) per provare a cambiarlo

Di Cataldo G, Gauci MC, Gammeri C, Dierna F, Ferrera G, Gambilonghi F, Meli C

2024/7 — pag. 141-141 — DOI

A 14-day-old infant was diagnosed with classical homocystinuria through extended newborn screening after detecting hypermethioninemia and elevated homocysteine levels. The infant exhibited feeding difficulties and poor general health. Following a low...

Screening neonatale esteso

Malni I, Candela E, Baldo F, Assirelli V, Daniotti M, Procopio E, Ruoppolo M, Pession A.

2023/9 — pag. 563-567 — DOI

Newborn screening is a test performed in the first days of life through which, just with some blood drops, it is possible to identify 49 conditions, including cystic fibrosis, congenital hypothyroidism, and numerous inborn errors of metabolism. The i...

La solita anemia sideropenica non responsiva

Talloa D

2023/3 — pag. 54-54 — DOI

The author describes the case of a 15-year-old girl presenting with unresponsive iron deficiency anaemia and splenomegaly finally diagnosed as Gaucher’s disease....

Ipotonia e ipertransaminasemia: pensa alla fruttosemia

Zanetto L, Benelli E.

2022/9 — pag. 598-600 — DOI

The case of a 3-month-old acutely hypotonic and hyporeactive girl is described. The diagnosis of fructosemia was eventually posed. The clinical, diagnostic and therapeutic implications of fructosemia are also discussed....

Diagnosi delle colestasi neonatali e infantili

Maggiore G, Della Corte C.

2022/4 — pag. 244-248 — DOI

Neonatal and infantile cholestasis (NIC) may represent the onset of a surgically correctable disease and of a genetic or metabolic disorder worthy of medical treatment. Timely recognition of NIC and identification of the underlying aetiology are para...

L’omocistinuria classica in età pediatrica

Ravaglia A, Costagliola G, Spada M

2021/10 — pag. 309-313 — DOI

Classical homocystinuria is an inborn error of methionin metabolism. It is characterized by an accumulation of homocysteine, due to a deficiency of the enzyme involved in its metabolism, namely cystathionine beta synthase. If not treated, the increas...

Sindrome di Morquio e sferocitosi ereditaria

S.M.C. Gramaglia, M. Lo Presti, C. Casà, G. Gramaglia

2020/10 — pag. 248-251 — DOI

Metabolic diseases are rare genetic conditions in the paediatric age. The diagnostic process is often complex and the diagnosis comes even years after the onset of symptoms. The article presents the only documented case of Morquio syndrome and heredi...

Ipertransaminasemia ed epatomegalia: cerca una diagnosi!

C. Di Chiara, G. D’Onofrio, P.M. Pavanello, S. Martelossi

2019/2 — pag. 34-34

Galattosemia e lieto fine: importanza dello screening neonatale allargato

L. Pecoraro, E. Rigotti, A. Dianin, G. Gugelmo, G. Rodella, I. Monge, E. Tadiotto, M. Clemente, A. Bordugo

2019/1 — pag. 12-12

Una intolleranza al fruttosio a 11 anni

G. Zanella

2017/4

Malattia delle urine a sciroppo d’acero e screening neonatale metabolico allargato

2016/8 — pag. 524-525

500 bimbi malati a rischio senza profilassi contro il virus respiratorio sinciziale - Lo screening neonatale allargato si farà in tutte le Regioni italiane - Che cos’è l’ARFID, nuovo disturbo alimentare di chi «seleziona» il cibo - Per gli esperti USA niente zucchero a bimbi sotto i due anni - Quando si hanno problemi a fare 'plin plin', l'idronefrosi - Aumentano i traumi di bimbi sul passeggino, i trucchi per evitarli - Sabbia e piscine: attenzione alle infezioni - Tutti i vantaggi di mettere i figli a letto presto (intorno alle 20) - Mal di pancia nei bambini, il test del salto - Bambini, l’importanza delle proteine nella dieta

2016/7

Pediatria 2016: tra povertà ed esomaTacere per amoreDiagnosi eziologica delle infezioni respiratorie: tutto e subitoCorticosteroidi e distrofia muscolare di Duchenne: gioie e doloriCorticosteroide inalatorio e crescitaPancreatite ricorrente e pancreatite cronica: avete visto mai?POTS: tra mito, realtà... e impotenza del pediatra

2016/6 — pag. 349-350

Difetto di mevalonato-chinasi: molte facce di una stessa malattia

C. De Pieri, A. Insalaco, A. Taddio, E. Barbi, L. Lepore, A. Tommasini, A. Ventura

2013/8 — pag. 501-506

Mevalonate kinase deficiency (MKD), also known as Hyper IgD syndrome, is an inborn error of metabolism characterized by inflammatory dysregulation and, in most severe cases, neurodevelopmental delay. The clinical phenotype of each patient depends o...

Nostro figlio ha una malattia metabolica rara

R. Rubessa, F. Bertoglio, F. Parizzi, F. Furlan, F. Santus, F. Nichelli, R. Parini, G. Masera

2012/6 — pag. 371-374

Genetic metabolic disorders are multiorgan complex diseases, with only partially effective treatment available. Two families associations (Associazione per la tutela del bambino con malattie metaboliche “ABM” and Associazione Italiana Mucopolisacca...

I difetti di ossidazione degli acidi grassi

2010/8 — pag. 527-528

Screening neonatale metabolico allargatoIn arrivo una nuova realtà per la pediatria

I. Bruno, A. Ventura, A. Burlina

2010/7 — pag. 429-433

Newborn expanded screening is slowly starting in Italy. The programme will screen some rare, most metabolic, diseases that could be managed and treated better if diagnosed in the first days of life. The program has been adopted in many countries in...

I vaccini nei pazienti con malattie del metabolismo

G. Bartolozzi

2006/8

Possono i pediatri accettare un cambiamento nella loro pratica?Russamento, osas, chirurgia: come e quandoLimite delle cure a 22 o a 23 settimane di gestazioneMalattie del metabolismo e vaccinazioniProblemi scolastici e privacy

2006/5 — pag. 284-287

Un lattante distrofico

L. Calligaris, G. Cont, D. Codrich, F. Zennaro, F. Marchetti

2005/9

Quando una sepsi neonatale nasconde una malattia metablica

C. Forino, C. Rodriguez-Perez

2005/1

Paolo Durand

M&B

2003/6 — pag. 351-352

Che cosa deve sapere il pediatra delle malattie rare

A. Ventura, A. Gagliardo, I. Berti, F. Marchetti

2003/5 — pag. 292

Rare diseases constitute a highly eterogeneous category of (mainly genetic) disorders. Even if the individual diseases are rare, due to their global incidence, rare diseases represent both an important cause of morbidity and mortality and a challen...

I geni della malattia: la cura delle malattie genetiche

L.D. Notarangelo

2001/1 — pag. 24-29

The treatment of genetic diseases is not fruit of the imagination, although too many hasty statements, such as those on gene therapy, created a deep disappointment. Effective medical actions include marrow grafting, replacement treatments (enzymes,...

SIDS e beta-bloccantiSIDS e malattie metabolicheUna mamma e il QT lungo di una figliaProgetto operativo per la valutazione dell’ECG nel periodo neonatale

2000/10 — pag. 624