Organic aciduria. Treatable cause of floppy infant syndrome.

Infantile hypotonia or floppy infant is a diagnostic challenge when it presents with other presenting complaints such as fever, cough or diarrhea. Many times the hypotonia goes unnoticed when other symptom covers the hypotonia and child continues to receive the treatment for other symptoms. We report a rare case from Nepal of infantile Pompe disease who presented with the history of fever and cough in the recent earthquake disaster camp at remote part of Sindhupalchowk, Nepal. He was being treated as a case of pneumonia.Pompe disease can be diagnosed clinically by taking detailed history and correlating the clinical findings during the presentation with other symptoms. In our case the normal respiratory rate, reduced Spo2 and presence of crackles dominated the hypotonia and was mistreated as pneumonia. High index of suspicion is necessary in diagnosing Pompe disease.

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Single nucleotide polymorphism array analysis uncovers a large, novel duplication in Xq13.1 in a floppy infant syndrome patient

International Journal of Developmental Neuroscience ◽

10.1016/j.ijdevneu.2018.09.004 ◽

2018 ◽

Vol 74 (1) ◽

pp. 56-60

Author(s):

Min Liu ◽

Yuhuan Wang ◽

Sijia Yang ◽

He Wei ◽

Miao Tuo ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Single Nucleotide Polymorphism Array ◽

Syndrome Patient ◽

Nucleotide Polymorphism ◽

Array Analysis ◽

Single Nucleotide ◽

Floppy Infant

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63. Organic Aciduria Accompanying Imerslundʼs Syndrome (Congenital Malabsorption of Vitamin B12)

Southern Medical Journal ◽

10.1097/00007611-196912000-00087 ◽

1969 ◽

Vol 62 (12) ◽

pp. 1556

Author(s):

Joseph G. Hollowell ◽

James C. McPherson ◽

Dorothy A. Hahn

Keyword(s):

Vitamin B12 ◽

Organic Aciduria

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Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency

Journal of Inherited Metabolic Disease ◽

10.1007/bf01811480 ◽

1985 ◽

Vol 8 (S2) ◽

pp. 105-106 ◽

Cited By ~ 6

Author(s):

C. Erasmus ◽

L. J. Mienie ◽

C. J. Reinecke ◽

S. K. Wadman

Keyword(s):

Late Onset ◽

Organic Aciduria ◽

Multiple Carboxylase Deficiency

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Floppy Infant

Atlas of Genetic Diagnosis and Counseling ◽

10.1007/978-1-4614-6430-3_95-2 ◽

2016 ◽

pp. 1-20

Author(s):

Harold Chen

Keyword(s):

Floppy Infant

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Acrodermatitis-Like Syndrome in Organic Aciduria

PEDIATRICS ◽

10.1542/peds.93.3.537 ◽

1994 ◽

Vol 93 (3) ◽

pp. 537-537

Author(s):

U. Blecker ◽

Y. Vandenplas ◽

L. De Meirleir ◽

L. De Raeve ◽

J. Ramet

Keyword(s):

Vitamin B12 ◽

Autosomal Recessive ◽

Clinical Manifestations ◽

Methylmalonic Aciduria ◽

Organic Aciduria ◽

Asymptomatic Patients ◽

High Doses

Methylmalonic aciduria (MMA) is an autosomal recessive in-born error of metabolism with a variation in the severity of the clinical manifestations, ranging from asymptomatic patients to fulminating neonatal forms causing severe ketosis, acidosis, hyperammonemia, pancytopenia, coma, and death. Severe cases can be treated with high doses of vitamin B12 and a diet low in proteins. We describe an exceptional manifestation of MMA. A 14-month-old boy with a neonatal manifestation of MMA was admitted during an intercurrent infection with ketoacidosis and hypoglycemia.

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